E76G (p.Glu76Gly) variant of C5 (Complement C5)
E76G (p.Glu76Gly) in C5 (Complement C5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E76G (p.Glu76Gly) variant details
- p.Glu76Gly
- rs770633215
- ClinGen CA5218453
- ClinVar RCV001925382
- ExAC rs770633215
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.06
- MetaLR 0.06
- MetaSVM -1.05
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available